Epidermolysis bullosa simplex, often shortened to EBS, is an inherited skin disorder in which the skin is unusually fragile and blisters easily, even after very light friction or rubbing. It is one of the major forms of the wider epidermolysis bullosa group of genetic conditions. EBS results from mutations in the genes that code for keratin 5 and keratin 14, two structural proteins of the outer skin, and these changes stop the epidermis from bonding properly to the dermis beneath it at the dermal-epidermal junction. A small number of patients carry no mutation in either keratin gene, and changes in the plectin gene are being studied in the Ogna form. The condition is divided into several types. There is no cure, and care aims to protect the skin, prevent blistering, promote healing and avoid complications, including keeping the patient cool and reducing friction.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Epidermolysis bullosa simplex (Wikipedia)
Lead
is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14
Lead [body-system]
a group of genetic conditions that cause the skin to be very fragile and to blister easily
View the Source2. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10ICD-10 2019 category Q81.0Quote, ICD-10 2019 category Q81.0
Q81.0 Epidermolysis bullosa simplex
View the Source 3. National Cancer Institute (NCI Thesaurus): Epidermolysis bullosa simplex - NCI Thesaurus concept C84692
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes.
View the Source 4. MedlinePlus Genetics (U.S. National Library of Medicine): Epidermolysis bullosa simplex - MedlinePlus Genetics
MedlinePlus Genetics (U.S. National Library of Medicine)Description and InheritanceQuote, Description and Inheritance
Epidermolysis bullosa simplex is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
View the Source 5. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 304
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 304Quote, Orphanet epidemiology, ORPHAcode 304
"PrevalenceClass": "1-9 / 1 000 000", "PrevalenceGeographic": "Worldwide", "PrevalenceQualification": "Value and class", "PrevalenceType": "Point prevalence"
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